期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 112, 期 3, 页码 291-296出版社
WILEY-LISS
DOI: 10.1002/ajmg.10777
关键词
brachydactyly type C; growth/differentiation factor 5; cartilage-derived morphogenetic protein 1
资金
- NIAMS NIH HHS [AR 45687] Funding Source: Medline
- NICHD NIH HHS [HD 07518, HD22657, HD 07104] Funding Source: Medline
- NIGMS NIH HHS [GM08243] Funding Source: Medline
Growth/differentiation factor-5 (GDF5), also known as cartilage-derived morphogenetic protein-1 (CDMP-1), is a secreted signaling molecule that participates in skeletal morphogenesis. Heterozygous mutations in GDF5, which maps to human chromosome 20, occur in individuals with autosomal dominant brachydactyly type C (BDC). Here we show that BDC is locus homogeneous by reporting a GDF5 frameshift mutation segregating with the phenotype in a family whose trait was initially thought to map to human chromosome 12. We also describe heterozygous mutations in nine additional probands/families with BDC and show nonpenetrance in a mutation carrier. Finally, we show that mutant GDF5 polypeptides containing missense mutations in their active domains do not efficiently form disulfide-linked dimers when expressed in vitro. These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5. (C) 2002 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据